Graduation Date

5-2018

Document Type

Master's Thesis

Degree Name

Master of Science

Department or Program

Clinical Laboratory Sciences

Department or Program Chair

Mary Sevigny, PhD

First Reader

Nandu Chindarkar, PhD and Keith Ng, MPH

Second Reader

Maria C. DeSousa, JD, MPA, CLS

Abstract

Sickle cell disease (SCD) is a genetic blood disorder that causes the RBC to become sickle shaped due to a mutation in the β-globin gene encoding the protein hemoglobin. This disease causes reduced oxygen carrying capacity of RBC resulting in painful crisis, hemolytic anemia, and infection susceptibility. SCD affects around 100,000 individuals in USA alone and 14 million people globally. SCD affected individuals have high mortality rates. Early detection and constant monitoring of this disease is essential. The following review focuses on various methodologies that have emerged in the diagnosis of SCD. Also, low cost methods that can be easily adopted in developing nations are discussed. Various conventional screening techniques and emerging Point-of-care (POC) methodologies for detection of SCD are covered in this review. The advantages and limitations of these techniques are discussed. Some of the popular conventional techniques explained here in details include the following: hemoglobin electrophoresis, isoelectric focusing, high performance liquid chromatography, liquid chromatography-mass spectrometry and DNA analysis. Under DNA analysis there are again several methodologies, that include use of restriction enzyme along with polymerase chain reaction to detect mutation in the SCD individuals; exome sequencing of DNA and direct genotyping for the single-nucleotide polymorphism that encodes the sickle mutation and also genome-wide association studies used to detect SCD. The emerging POC technologies for SCD screening have also been covered here that include the following methodologies; paper-based hemoglobin solubility assays, Lateral Flow Immunoassays, Density-based separation methods and Micro engineered electrophoresis. The goal of this review is to give a comprehensive report of the current methodologies used for detection of SCD.

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